Improved inherited peripheral neuropathy genetic diagnosis by whole‐exome sequencing-Reference-Cited by-同舟云学术

Improved inherited peripheral neuropathy genetic diagnosis by whole‐exome sequencing

Published:2015-01-14 Issue:2 Volume:3 Page:143-154
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Drew Alexander P.¹,Zhu Danqing²,Kidambi Aditi¹,Ly Carolyn¹,Tey Shelisa³,Brewer Megan H.¹⁴,Ahmad‐Annuar Azlina³,Nicholson Garth A.¹²⁴,Kennerson Marina L.¹²⁴

Affiliation:

1. Northcott Neuroscience Laboratory ANZAC Research Institute Sydney Australia

2. Molecular Medicine Laboratory Concord Hospital Sydney Australia

3. Department of Biomedical Science Faculty of Medicine University of Malaya 50603 Kuala Lumpur Malaysia

4. Sydney Medical School University of Sydney Sydney Australia

Funder

National Health and Medical Research Council

Ministry of Higher Education, Malaysia

Australia Endeavour Research Fellowship

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.126

Reference56 articles.

1. A method and server for predicting damaging missense mutations

2. Phenotypical and genotypical heterogeneity of Charcot‐Marie‐Tooth disease type 2A associated with the mitofusin 2 gene (MFN2);Angiari C.;J. Peripheral Nervous Syst.,2006

3. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

4. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

5. Connexin32 and X-linked Charcot–Marie–Tooth Disease

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